Neuropediatrics
None
| Product | Type of test | Genes |
|---|---|---|
| Spinocerebellar ataxia (SCA) type 8 | Detection of expansions | ATXN8OS |
| Spinocerebellar ataxia with axonal... | Gene NGS | SETX |
| Spinocerebellar ataxia, KCNC3 | Gene NGS | KCNC3 |
| Spinocerebellar ataxia, Panel (SCA1/2/3/6/7) | Detection of expansions | ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 |
| Spinocerebellar ataxia. Panel (SCA1/2/3/8/10) | Detection of expansions | ATXN1, ATXN2, ATXN3, ATXN8OS, ATXN10 |
| Spondylocostal dysostosis | NGS Panel | DLL3, LFNG, MESP2, HES7 |
| Spondylocostal dysostosis 1, autosomal... | Gene NGS | DLL3 |
| Spondylocostal dysostosis 2, autosomal... | Gene NGS | MESP2 |
| Spondylocostal dysostosis 3, autosomal... | Gene NGS | LFNG |
| Spondylocostal dysostosis 4, autosomal... | Gene NGS | HES7 |
| Spondyloenchondrodysplasia with immune... | Gene NGS | ACP5 |
| Spondyloepiphyseal dysplasia tarda | Gene NGS | TRAPPC2 |
| Spondyloepiphyseal dysplasia, congenital | Gene NGS | COL2A1 |
| ST3GAL3 Sequencing | Gene NGS | ST3GAL3 |
| Stargardt disease 1 | Gene NGS | ABCA4 |
| Stickler syndrome | NGS Panel | COL11A1, COL2A1, COL11A2, COL9A1, COL9A2 |
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- Cytoarray (Ige, serum)
- Cytoarray 400K Autismo
- Cytoarray CGH 60k
- Cytoarray Parental (180k)
- Cytoarray Parental (60k)
- Cytoarray + SNP
- Cytoarray Plus + SNP ( 400k)
- Cytoarray Plus 180k
- Cytoarray Plus 1M
- Cytoarray Plus 400k
- Cytoarray Prenatal
- Cytoarray Prenatal 60K with Karyotype
- Cytoarray Prenatal - without bioinformatic analysis
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PGS and PGD using NGSPrenatal DiagnosisNGS Carrier Screening PanelRecurrent Miscarriage TestingWhole Exome Sequencing